Description
Product Characteristics:
The HRPT2 gene product, parafibromin, is a tumor suppressor protein that is part of the human Paf1 complex. The yeast counterpart to this complex is part of the RNA polymerase II complex as well, and is important for histone modification and connections to posttranscriptional events. Human parafibromin also associates with the RNA polymerase II large subunit.
Subcellular location: Nucleus
Synonyms: C1orf28,CDC 73,CDC73,Cell division cycle 73,Cell division cycle 73 Paf1/RNA polymerase II complex component homolog,Cell division cycle protein 73 homolog,FLJ23316,HPT-JT,HRPT 2,Hyperparathyroidism 2 with jaw tumor,Hyperparathyroidism 2,Hyperparathyroidism 2 protein,Parafibromin.
Target Information: This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]